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Dystonia musculorum deformans type 1

A hereditary autosomal dominant form of dystonia musculorum deformans. Onset typically occurs in middle to late childhood and the disorder has a high incidence among Ashkenazi Jewish people, though PENETRANCE is incomplete and there is wide variablity in the severity and number of symptoms that may be present. Mutations in the DYT1 gene have been identified. OMIM: 128100
Also Known As:
Dystonia 1, Torsion, Autosomal Dominant; Dystonia Musculorum Deformans 1; Dyt1; Early onset torsion dystonia; Early-Onset Generalized Torsion Dystonia; Early-Onset Primary Dystonia; Early-Onset Torsion Dystonia; Oppenheim Dystonia; Oppenheim's Dystonia; Primary Torsion Dystonia; Torsion dystonia 1, autosomal dominant
Networked: 304 relevant articles (15 outcomes, 31 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Dystonia (Limb Dystonia)
2. Dystonic Disorders (Writer's Cramp)
3. Movement Disorders (Movement Disorder)
4. Dyskinesias (Dyskinesia)
5. Disease Progression

Experts

1. Li, Yuqing: 21 articles (12/2021 - 12/2005)
2. Breakefield, Xandra O: 21 articles (09/2020 - 11/2002)
3. Yokoi, Fumiaki: 19 articles (12/2021 - 12/2005)
4. Pisani, Antonio: 18 articles (01/2022 - 04/2009)
5. Gonzalez-Alegre, Pedro: 14 articles (01/2021 - 06/2003)
6. Standaert, David G: 13 articles (01/2019 - 02/2003)
7. Sciamanna, Giuseppe: 12 articles (01/2022 - 04/2009)
8. Bonsi, Paola: 11 articles (01/2022 - 04/2009)
9. Martella, Giuseppina: 11 articles (01/2022 - 04/2009)
10. Tassone, Annalisa: 11 articles (01/2022 - 04/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Dystonia musculorum deformans type 1:
1. Proteins (Proteins, Gene)FDA Link
2. Dopamine (Intropin)FDA LinkGeneric
3. Prostaglandins DIBA
4. Muscarinic AntagonistsIBA
5. Levodopa (L Dopa)FDA LinkGeneric
6. Muscarinic M1 ReceptorIBA
7. Cholinergic Agents (Cholinergics)IBA
8. Dopamine D2 Receptors (Dopamine D2 Receptor)IBA
9. Dihydroxyphenylalanine (Dopa)IBA
10. DNA (Deoxyribonucleic Acid)IBA

Therapies and Procedures

1. Deep Brain Stimulation
2. Therapeutics
3. Pallidotomy
4. Electrodes (Electrode)
5. Microelectrodes